E47E (p.Glu47Glu) variant of GJB2 (Gap junction beta-2 protein)
E47E (p.Glu47Glu) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- rs370164829
- gnomAD 13-20189441-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 7.77
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available